• Mutation; HGNC; HGNC:1097; BRAF; Simple; p.Val600Lys (c.1798_1799delGTinsAA); ClinVar=VCV000375941; Zygosity=Heterozygous (PubMed=20149136; PubMed=26214590).
  

PubMed=9177196; DOI=10.1073/pnas.94.12.6210; PMCID=PMC21028
Halaban R., Cheng E., Zhang Y., Moellmann G.E., Hanlon D., Michalak M., Setaluri V., Hebert D.N.
Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells.
Proc. Natl. Acad. Sci. U.S.A. 94:6210-6215(1997)

PubMed=20149136; DOI=10.1111/j.1755-148X.2010.00685.x; PMCID=PMC2848976
Halaban R., Zhang W., Bacchiocchi A., Cheng E., Parisi F., Ariyan S., Krauthammer M., McCusker J.P., Kluger Y., Sznol M.
PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells.
Pigment Cell Melanoma Res. 23:190-200(2010)

PubMed=23012583; PMCID=PMC3447199
Parisi F., Micsinai M., Strino F., Ariyan S., Narayan D., Bacchiocchi A., Cheng E., Xu F., Li P.-N., Kluger H.M., Halaban R., Kluger Y.
Integrated analysis of tumor samples sheds light on tumor heterogeneity.
Yale J. Biol. Med. 85:347-361(2012)

PubMed=26214590; DOI=10.1038/ng.3361; PMCID=PMC4916843
Krauthammer M., Kong Y., Bacchiocchi A., Evans P., Pornputtapong N., Wu C., McCusker J.P., Ma S.-G., Cheng E., Straub R., Serin M., Bosenberg M.W., Ariyan S., Narayan D., Sznol M., Kluger H.M., Mane S.M., Schlessinger J., Lifton R.P., Halaban R.
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)